9 results on '"Claire Hughes"'
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2. A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES
3. Pseudohypoparathyroidism type 1A and 1B: presentation, phenotypes and phenotype-genotype associations
4. The management of adrenal cell carcinoma in the United Kingdom at a single centre: a 25 year experience
5. Non classical congenital adrenal hyperplasia presenting with a severe salt losing crisis
6. Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability
7. Growth hormone neurosecretory dysfunction as part of the spectrum of growth hormone deficiency disorders which benefit from growth hormone treatment
8. Exaggerated cortisol response in heterozygous carriers with a mutation in the melanocortin-2 receptor (MC2R) gene
9. A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans
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